BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

301 related articles for article (PubMed ID: 11949933)

  • 21. Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
    Lucchiari S; Fogh I; Prelle A; Parini R; Bresolin N; Melis D; Fiori L; Scarlato G; Comi GP
    Am J Med Genet; 2002 May; 109(3):183-90. PubMed ID: 11977176
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle].
    Wang W; We M; Song HM; Qiu ZQ; Zhang WM; Wu XY; Lu CX; Qi JM; Jing H; Li F
    Zhonghua Er Ke Za Zhi; 2009 Aug; 47(8):608-12. PubMed ID: 19951495
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
    Okubo M; Horinishi A; Suzuki Y; Murase T; Hayasaka K
    Am J Med Genet; 2000 Jul; 93(3):211-4. PubMed ID: 10925384
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
    Mili A; Ben Charfeddine I; Amara A; Mamaï O; Adala L; Ben Lazreg T; Bouguila J; Saad A; Limem K; Gribaa M
    Clin Genet; 2012 Dec; 82(6):534-9. PubMed ID: 22035446
    [TBL] [Abstract][Full Text] [Related]  

  • 25. DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.
    Lam CW; Lee AT; Lam YY; Wong TW; Mak TW; Fung WC; Chan KC; Ho CS; Tong SF
    Mol Genet Metab; 2004 Nov; 83(3):271-5. PubMed ID: 15542399
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Mutational analysis of the AGL gene: five novel mutations in GSD III patients.
    Lucchiari S; Donati MA; Melis D; Filocamo M; Parini R; Bresolin N; Comi GP
    Hum Mutat; 2003 Oct; 22(4):337. PubMed ID: 12955720
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
    Abdullah IS; Teh SH; Khaidizar FD; Ngu LH; Keng WT; Yap S; Mohamed Z
    Genes Genomics; 2019 Aug; 41(8):885-893. PubMed ID: 31028654
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
    Endo Y; Fateen E; Aoyama Y; Horinishi A; Ebara T; Murase T; Shin YS; Okubo M
    J Hum Genet; 2005; 50(10):538-542. PubMed ID: 16189622
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.
    Oh SH; Park HD; Ki CS; Choe YH; Lee SY
    Clin Chem Lab Med; 2008; 46(9):1245-9. PubMed ID: 18785866
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
    Goldstein JL; Austin SL; Boyette K; Kanaly A; Veerapandiyan A; Rehder C; Kishnani PS; Bali DS
    Genet Med; 2010 Jul; 12(7):424-30. PubMed ID: 20648714
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
    Ben Rhouma F; Azzouz H; Petit FM; Khelifa MB; Chehida AB; Nasrallah F; Parisot F; Lasram K; Kefi R; Bouyacoub Y; Romdhane L; Baussan C; Kaabachi N; Ben Dridi MF; Tebib N; Abdelhak S
    Mol Biol Rep; 2013 Jul; 40(7):4197-202. PubMed ID: 23649758
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
    Okubo M; Ucar SK; Podskarbi T; Murase T; Shin YS; Coker M
    Clin Chim Acta; 2015 Jan; 439():162-7. PubMed ID: 25451950
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Glycogen storage disease type III in the Irish population.
    Crushell E; Treacy EP; Dawe J; Durkie M; Beauchamp NJ
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S215-8. PubMed ID: 20490926
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.
    Bao Y; Yang BZ; Dawson TL; Chen YT
    Gene; 1997 Sep; 197(1-2):389-98. PubMed ID: 9332391
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.
    Horvath JJ; Austin SL; Jones HN; Drake EJ; Case LE; Soher BJ; Bashir MR; Kishnani PS
    Mol Genet Metab; 2012 Nov; 107(3):496-500. PubMed ID: 23062577
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type IIIa].
    Guo L; Lin W; Zhang Z; Zhao X; Zhang S; Cai X; Zhou Q; Song Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Aug; 32(4):502-5. PubMed ID: 26252094
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Novel variants in Turkish patients with glycogen storage disease.
    Çakar NE; Gezdirici A; Topuz HŞ; Önal H
    Pediatr Int; 2020 Oct; 62(10):1145-1150. PubMed ID: 32374048
    [TBL] [Abstract][Full Text] [Related]  

  • 38. High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.
    Cherif W; Ben Rhouma F; Messai H; Mili A; Gribaa M; Kefi R; Ayadi A; Boughamoura L; Chemli J; Saad A; Kaabachi N; Sfar MT; Ben Dridi MF; Tebib N; Abdelhak S
    Ann Biol Clin (Paris); 2012; 70(6):648-50. PubMed ID: 23207808
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Molecular characterisation of GSD III subjects and identification of six novel mutations in AGL.
    Lucchiari S; Donati MA; Parini R; Melis D; Gatti R; Bresolin N; Scarlato G; Comi GP
    Hum Mutat; 2002 Dec; 20(6):480. PubMed ID: 12442284
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
    Cheng A; Zhang M; Okubo M; Omichi K; Saltiel AR
    Hum Mol Genet; 2009 Jun; 18(11):2045-52. PubMed ID: 19299494
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.